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cholestasis, progressive familial intrahepatic, 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cholestasis, progressive familial intrahepatic, 13

MONDO:0975807

Overview

GeneticsPSKH1 (chr 16)

Genetic Landscape

PSKH1 function has not been fully characterized.

Cholestasis, progressive familial intrahepatic, 13 is associated with mutations in the PSKH1 gene on chromosome 16.

Diagnosis

Genetic testing for PSKH1 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cholestasis, progressive familial intrahepatic, 13.

25 publications have been identified in PubMed for cholestasis, progressive familial intrahepatic, 13. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (32%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	9	36%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620962

Questions for Your Care Team

→Should I pursue genetic testing for PSKH1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cholestasis, progressive familial intrahepatic, 13

Overview

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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